Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel

KCNQ1 LQT syndrome familial epilepsy genetic modifier risk haplotype

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2019
Historique:
received: 15 12 2018
accepted: 03 06 2019
entrez: 12 7 2019
pubmed: 12 7 2019
medline: 12 7 2019
Statut: epublish

Résumé

Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, and the sudden unexplained death in epilepsy (SUDEP) was considered to be the pathologic overlap between the two clinical conditions. For LQT-associated

Identifiants

pubmed: 31293497
doi: 10.3389/fneur.2019.00648
pmc: PMC6603176
doi:

Types de publication

Journal Article

Langues

eng

Pagination

648

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Auteurs

Harald Prüss (H)

Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
German Center for Neurodegenerative Diseases (DZNE) Berlin, Bonn, Germany.

Guido Gessner (G)

Department of Biophysics, Center for Molecular Biomedicine, Friedrich Schiller University Jena & Jena University Hospital, Jena, Germany.

Stefan H Heinemann (SH)

Department of Biophysics, Center for Molecular Biomedicine, Friedrich Schiller University Jena & Jena University Hospital, Jena, Germany.

Franz Rüschendorf (F)

Max Delbrück Centre for Molecular Medicine, Berlin, Germany.

Ann-Kathrin Ruppert (AK)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Herbert Schulz (H)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Thomas Sander (T)

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Wilhelm Rimpau (W)

Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Classifications MeSH